News at Medicine - October 2009 - Working with families to understand genetic disease


Working with families to understand genetic disease
October 22, 2009
Earning a PhD is no small feat, but for Kathy Hodgkinson the degree is not as important as the clinical work she has done over the last 15 years on a severe genetic disease. On Oct 23 she received her degree at fall convocation; she has the added honour of serving as aide to Dr. Elizabeth Blackburn, who will receive an honorary degree from Memorial the same day.
 

For Kathy, earning her PhD is "all about the impact my research has had on families who carry the rare but deadly arrhythmogenic right ventricular cardiomyopathy (ARVC), which causes sudden cardiac death." 

Kathy’s doctoral thesis is on the clinical and genetic epidemiology of ARVC in Newfoundland. Unlike research that takes place on a laboratory, her work involves talking to families, developing family pedigrees and collecting medical information that will help to understand how the disease works.

“This piece of work was far more than just a thesis,” she said. “Genetic research of this type becomes almost a crusade, revealing as it does the inequalities inherent in a health care system struggling to provide care in rural de-populated areas, and defines a desire to help individuals reluctant sometimes to face the burden of inheritance.”

In 1995, Kathy began working as a genetic counselor in collaboration with researchers at Memorial University. Some families had been referred for “cardiomyopathy,” a catch-all phase that didn’t offer a specific diagnosis. She began to define the population of people with the disease. Building on this work, laboratory research led by Dr. Terry-Lynn Young was eventually able to identify the gene responsible for ARVC in Newfoundland in 2008.

For the families involved, that discovery now means that a blood test can tell who does, or doesn’t, carry the ARVC gene.

“I have loved working with this population,” said Kathy. “particularly because I have met the most admirable, wonderful people. Clinical research of this nature is so very important because the research results may alter the way the disease is treated, diagnosed or managed. ”

Kathy has cried with families when the diagnosis is bad, and laughed in relief with them when the news is good. Never one to rest on her laurels, she continues the ARVC research and is also involved in genetic research on hearing loss and Tourette Syndrome. She also collaborates on research into genetic knowledge and moral responsibility.

Before moving to St. John’s Kathy earned a M.Sc. in genetic counselling at McGill University; and a  B.Sc. in genetics and cell biology from Manchester University, England.